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Describe the mechanism of action of Bezlotoxumab?

Bezlotoxumab (Zinplava™) is a human monoclonal antibody against Clostridium difficile toxin B (TcdB). It is used for prevention of recurrent C. difficile infections.

What is the use of the CAHP score?

CAHP (cardiac arrest hospital prognosis) score is used to evaluate prognosis after cardiac arrest.

Is verubecestat effective for Alzheimer’s Disease?

No. Verubecestat is not effective for treatment of Alzheimer’s Disease.

Which tissues express the ACE2 protein?

Abundant ACE2 immunostaining was found in lung, kidney, heart, and islets of pancreas, but not in hepatocytes

How are nucleosome posisitions correlated with sites of 5'-methyl-cytosine (5mC) or 5-hydroxy-methyl-cytosine (5hmC)?

We find that Mbd3 and Brg1 antagonistically regulate a common set of genes by regulating promoter nucleosome occupancy. outside of CpG islands most CpGs are methylated, and the average methylation density oscillates so that it is highest in the linker region between nucleosomes we have investigated nucleosome organization around hypomethylated regions (HMRs)

Which therapeutic interventions for sarcopenia have been applied

The main bulk of experimental pharmacological interventions addressing the clinical problem of frailty have been focused on the use of hormones, as replacement therapy in subjects with low or normal circulating basal levels of the hormone. Results have been disappointing, except for the case of testosterone that have shown some benefits. The effectiveness of other potential therapeutic interventions (antioxidants, anti-inflammatory agents, nutritional supplements) appears to be limited or has not been explored in detail until now.

Is there high nucleotide diversity in the Drosophila suzukii species?

Native to Asia, the soft-skinned fruit pest Drosophila suzukii has recently invaded the United States and Europe. The eastern United States represents the most recent expansion of their range, and presents an opportunity to test alternative models of colonization history. There are high levels of nucleotide diversity in this species and research suggests that the recent invasions of Europe and the continental United States are independent demographic events.

Which are the subunits of the transcription factor NF-kappaB in the canonical pathway activation?

The NF-κB canonical pathway is mediated by the p65/relA and p50 subunits.

Describe King–Kopetzky syndrome.

The principal symptom of subjects suffering from King-Kopetzky syndrome (Obscure Auditory Dysfunction) is perceived difficulty in recognizing and understanding speech in noisy backgrounds. For some patients, minor disturbances in auditory function, e.g. a deteriorated signal-to-noise ratio for speech, can be demonstrated; for others, all measurements of hearing are normal.

Which genes are involved in patient response to warfarin?

The following genes have been associated with patient response to warfarin: CYP2C9, VKORC1, ORM1, CYP4F2, EPHX1, CYP2C18, CYP2C19, CYP3A5, protein S, clotting factor V, PROC, GGCX.

What is the rate of survival after commotio cordis?

Survival rates for commotio cordis are low, even when resuscitation is performed. Survival rates vary between 10% and 28%.

Which is the binding site motif of Sp1?

Sp1 binds to a GC-rich sequence element containing the decanucleotide consensus sequence 5′-(G/T)GGGCGG(G/A)(G/A)(C/T)-3′ (GC box element) in double stranded DNA (dsDNA). Gel shift competition studies and DNase I footprinting analyses revealed that Sp1 specifically interacts with the CACCC motif.

What disease is treated with BIVV001?

BIVV001 fusion protein has been developed as Factor VIII replacement therapy for hemophilia A

How does dabigatran therapy affect aPTT in patients with atrial fibrillation?

Dabigatran increases aPTT in patients with atrial fibrillation, although aPTT does not respond linearily to dabigatran therapy.

What does a PET (Positron Excitation Tomography) measure?

Positron Excitation Tomography (PET) is a simple, reliable, and valid method of assessing brain activity in patients with Parkinson's disease (PD).

Is endotrophin derived from collagen?

Yes, Endotrophin is released from COL VI.

Is Lanabecestat effective for Alzheimer's disease?

No. Treatment with lanabecestat was well tolerated and did not slow cognitive or functional decline of Alzheimer's disease patients.

What is the role of the MCM2-7 complex?

The MCM2-7 complex is a ring-shaped heterohexamer helicase, that unwinds the DNA double helix ahead of the other replication machinery. During pre-replication complex (pre-RC) formation, origin recognition complex (ORC), Cdc6, and Cdt1 cooperatively load a double-hexameric MCM2-7 complex onto DNA. Loading of MCM2-7 is a prerequisite for licensing of eukaryotic DNA replication. During S phase MCM2-7 functions as part of the replicative helicase but within the pre-RC MCM2-7 is inactive.

What is the function of the PDZ domain in SATB1?

N-terminal PDZ-like domain of chromatin organizer SATB1 contributes towards its function as transcription regulator. We found this dimerization region to have sequence similarity to PDZ domains, which have been previously shown to be involved in signaling by conferring protein-protein interactions. These studies clearly demonstrated the role of PDZ domain of SATB1 in global gene regulation presumably through its interaction with other cellular proteins. PDZ domain-mediated dimerization and homeodomain-directed specificity are required for high-affinity DNA binding by SATB1.

Does the CTCF protein co-localize with cohesin?

Recent genome-wide studies mapping the binding sites of CTCF and its interacting partner, cohesin, using chromatin immunoprecipitation coupled with deep sequencing (ChIP-seq) revealded that CTCF globally co-localizes with cohesin.

Does TIMELESS-TIPIN participate in replisome disassembly?

Yes. TIMELESS-TIPIN and UBXN-3 promote replisome disassembly during DNA replication termination in Caenorhabditis elegans.

Is subdural empyema a complication of sinusitis?

Yes, subdural empyema can be a complication of sinusitis

Which brain structures have been investigated as potential targets for deep brain stimulation of patients suffering from major depression?

Subgenual cingulate gyrus, the anterior limb of the capsula interna, nucleus accumbens, medial forebrain bundle, habenula, and caudate nucleus have been investigated as potential targeted for the deep brain stimulation of patients suffering from major depression.

What is pseudodementia?

Depression can cause some clinical symptoms and signs of dementia, classically in older adults. This type of "dementia" is called pseudodementia and is typically reversible with treatment.

What is the mode of action of everolimus?

Everolimus is a drug that binds to mTORC1 and inhibits activation of the mTOR signalling pathway. It is used in targeted cancer therapy protocols or after transplantation for maintenance immunosuppression, against allograft rejection.

What is smFISH?

smFISH (Single-molecule fluorescence in situ hybridization) allows for quantitative imaging of single RNA molecules. Multi-color, single-molecule fluorescence in situ hybridization (smFISH) is particularly useful since it enables analysis of several different transcripts simultaneously. Combining smFISH with immunofluorescent protein detection provides additional information about the association between transcription level, cellular localization, and protein expression in individual cells.

Is g-H2AX a marker for double strand breaks?

Yes, The specific phosphorylation of histone H2AX on serine residue 139, described as g-H2AX, is an excellent indicator or marker of DNA double-strand breaks (DSBs).

Is Musclin a secretory peptide?

Yes, musclin has been described as a muscle-derived secretory peptide.

What is 23andMe?

We first take a look at how personal genomics services, exemplified by the company 23andMe,

How is Slc22a3 imprinted?

Two novel imprinted genes, Slc22a2 and Slc22a3 are described here that lie 110 and 155 kb 3' to Igf2r and that are not overlapped by the Air transcript but are regulated by the Igf2r-ICE, as previously shown for Igf2r. A bidirectional silencer for a 400-kilobase region that contains three imprinted, maternally expressed protein-coding genes (Igf2r/Slc22a2/Slc22a3) has been shown by targeted deletion to be located in a sequence of 3.7 kilobases, which also contains the promoter for the imprinted, paternally expressed non-coding Air RNA. Silencing of the paternal allele of three imprinted genes (Igf2r, Slc22a2 and Slc22a3) requires cis expression of the Air RNA

What is another name for the plant Sideritis scardica?

Sideritis scardica is also known as ironwort or mountain tea.

Safinamide is approved for treatment of which disease?

Safinamide is a monoamine-oxidase B (MAO-B) inhibitor licensed as add-on therapy for people with idiopathic Parkinson's disease who are experiencing motor fluctuations with levodopa.

Do U6-associated proteins Lsm4 and Lsm6 interact with SMN?

SMN interacts with at least two of the U6-associated Sm-like (Lsm) proteins, Lsm4 and Lsm6.

Which transcription factors (TFs) participate in the formation of the interferon-beta (IFN-b) enhanceosome?

Transcriptional activation of the IFN beta gene in response to virus infection requires the assembly of an enhanceosome, consisting of the transcriptional activators NF-kappa B, IRF1, ATF2/c-Jun, and the architectural protein HMG I(Y). Transcriptional activation of the human interferon-beta (IFN-beta) gene by virus infection requires the assembly of a higher order nucleoprotein complex, the enhanceosome, which consists of the transcriptional activators NF-kappa B (p50/p65), ATF-2/c-jun, IRF-3 and IRF-7, architectural protein HMGI(Y), and the coactivators p300 and CBP.

Which cyclin- dependent kinase inhibitor is regulated by Bmi-1?

p16INK4 (also known as CDKN2A)

What is the phenomenon described as "complex coacervation"?

Here, we demonstrate that charge-mediated phase separation, or complex coacervation, of RNAs with cationic peptides can generate simple model liquid organelles capable of reversibly compartmentalizing biomolecules. Impact of macromolecular crowding on RNA/spermine complex coacervation and oligonucleotide compartmentalization. The addition of PEG decreased both the amount of spermine required for phase separation and the coacervation temperature (TC).

What is the effect of the direct interaction of Ikaros and Foxp1 in B-lymphocytes?

Direct interaction of Ikaros and Foxp1 modulates expression of the G protein-coupled receptor G2A in B-lymphocytes and acute lymphoblastic leukemia.

Is there any role of TBR1 in autism?

Yes. Exome sequencing studies have identified multiple genes harboring de novo loss-of-function (LoF) variants in individuals with autism spectrum disorders (ASD), including T-Brain-1 (TBR1), a master regulator of cortical development. T-brain-1 (TBR1) is a brain-specific T-box transcription factor. In 1995, Tbr1 was first identified from a subtractive hybridization that compared mouse embryonic and adult telencephalons. Previous studies of Tbr1 (-∕-) mice have indicated critical roles for TBR1 in the development of the cerebral cortex, amygdala, and olfactory bulb. Neuronal migration and axonal projection are two important developmental features controlled by TBR1.

Which is the genetic defect causing Neurofibromatosis type 1?

Neurofibromatosis type 1 (NF1) is due to all types of mutations in the neurofibromin (NF1) gene.

Does thyroid hormone signaling affect microRNAs expression in the heart?

YES

List diseases that could be targeted by disaggregases?

UBQLN2 acts with the HSP70-HSP110 disaggregase machinery to clear protein aggregates via the 26S proteasome. UBQLN2 recognizes client-bound HSP70 and links it to the proteasome to allow for the degradation of aggregated and misfolded proteins. We further show that this process is active in the cell nucleus, where another system for aggregate clearance, autophagy, does not act.

Which receptors can be evaluated with the [18F]altanserin?

5-HT2A (5-hydroxytryptamine type 2a) receptor can be evaluated with the [18F]altanserin.

What is Couvelaire Uterus?

Couvelaire uterus is hematic infiltration uterine myometrium due to the formation of a massive hematoma. It is charecterised by dark purple patches with ecchymosis and indurations.

How can B-cells transdifferentiate into macrophages?

Inflammatory macrophages can transdifferentiate into myofibroblasts during renal fibrosis . Vascular endothelial growth factor modified macrophage transdifferentiates into endothelial-like cells and decrease foam cell formation . Human cancer cells can be induced by C/EBPα to transdifferentiated into seemingly normal cells at high frequencies .

List side effects of radiation therapy?

radiation-induced tumors radiation necrosis microangiopathy progressive leukencephalopathy pneumonitis disturbance of the blood-brain barrier radionecrosis of brain tissue radiogenic liver damage mucositis colitis osteitis osteoradionecrosis myositis Radiation-induced fibrosis Acute skin reactions

What is the name of Bruton's tyrosine kinase inhibitor that can be used for treatment of chronic lymphocytic leukemia?

Ibrutinib is the covalent inhibitor of Bruton's tyrosine kinase that can be used for treatment of chronic lymphocytic leukemia (CLL). Ibrutinib has shown highly encouraging results in phase I/II trials in patients with treatment-naive, relapsed and refractory CLL even in the presence of high risk disease or poor prognostic markers. Ibrutinib demonstrated that Bruton's tyrosine kinase inhibition sensitizes CLL cells to apoptosis and alters their migratory behavior. Ibrutinib has excellent activity in other B cell malignancies, including in particular mantle cell lymphoma and Waldenstrom macroglobulinemia.

What is a ciliopathy?

A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function

What is another name for AZD0530?

AZD0530 is also known as saracatinib.

What is the effect of Dkk1 in Wnt signaling?

Transcriptional silencing of the Wnt-antagonist DKK1 is a secreted protein that antagonizes Wnt signaling and plays essential roles in vertebrate embryogenesis.

List SLC25A46-related pathologies

The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited optic atrophy, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive myoclonic ataxia and lethal congenital pontocerebellar hypoplasia.

List the existing methods for genetic manipulation of cells.

Genetic engineering, also called genetic modification, is the direct manipulation of an organism's genome using biotechnology. New DNA may be inserted in the host genome by first isolating and copying the genetic material of interest using molecular cloning methods to generate a DNA sequence, or by synthesizing the DNA, and then inserting this construct into the host organism. Genes may be removed, or "knocked out", using a nuclease. Gene targeting is a different technique that uses homologous recombination to change an endogenous gene, and can be used to delete a gene, remove exons, add a gene, or introduce point mutations. Based on results there are developed many methods for genetic manipulation of cells such as Microinjection, electroporation, liposomes and via viral vectors.

What are common variants at 12q14 and 12q24 associated with?

Common variants at 12q14 and 12q24 are associated with hippocampal volume. Aging is associated with reductions in hippocampal volume that are accelerated by Alzheimer's disease and vascular risk factors.

What are the Topological Domains (TADs)?

Topolological domains or TADs are megabase-sized local chromatin interaction domains which are a pervasive structural feature of the genome organization. These domains correlate with regions of the genome that constrain the spread of heterochromatin. The domains are stable across different cell types and highly conserved across species, indicating that topological domains are an inherent property of mammalian genomes. The boundaries of topological domains are enriched for the insulator binding protein CTCF, housekeeping genes, transfer RNAs and short interspersed element (SINE) retrotransposons, indicating that these factors may have a role in establishing the topological domain structure of the genome.

What is a circRNA?

Circular RNAs (circRNAs) are a new class of non-coding RNA with a stable structure formed by special loop splicing.

Which translocation is harbored in the Askin tumor cells?

The Askin tumor is a primitive malignant small-cell tumor of the chest wall mostly seen among children and adolescents. It is closely related to Ewing's sarcoma of the same location, with both tumors harboring reciprocal translocation t(11;22) (q24;q12).

Which are the subtypes of Pfeiffer syndrome?

Pfeiffer syndrome is divided into three clinical subtypes.

What is the target of Inebilizumab?

Inebilizumab is an anti-CD19 antibody with enhanced antibody-dependent cell-mediated cytotoxicity against B cells, is currently being evaluated in multiple sclerosis and neuromyelitis optica.

What disease is presenilin involved in?

Loss-of-function mutations in PSEN1/2 genes are the leading cause of familial Alzheimer's disease (fAD).

Are Drosophila ultraconserved elements candidate ncRNAs?

Yes. Highly constrained intergenic Drosophila ultraconserved elements are candidate ncRNAs.

Is creatinine assessment included in the MELD score?

Yes, creatinine is included in the Model For End-Stage Liver Disease (MELD) score. Other components of the MELD score are international normalized ratio and serum billirubin. The MELD score is used for evaluation of liver cirrhosis.

Is avelumab effective for bladder cancer?

Yes, avelumab is effective treatment of bladder cancer.

How many and which are the different isoforms for the ryanodine receptor?

Generally, three ryanodine receptor isoforms (RyR1-RyR3) are known. RyR1, expressed in skeletal muscle; RyR2, expressed in cardiac muscle; and RyR3, expressed in various cells. RyR3 is preferentially expressed in the brain especially in the hippocampus and striatum.

List chromosomes that have been linked to Arnold Chiari syndrome in the literature.

Chromosomes 1, 3, 5, 6, 8, 9, 12, 13, 15, 16, 18, 22, X and Y have been reported in association with Arnold Chiari syndrome in genetic linkage studies and individual case reports.

Which type of cells is affected in Amyotrophic Lateral Sclerosis?

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder in which motor neurons are affected.

Missense mutations in which genes cause X-linked developmental and epileptic encephalopathy?

GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy. Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 also cause an X-linked developmental and epileptic encephalopathy.

What is SpatialDE?

SpatialDE is a statistical test to identify genes with spatial patterns of expression variation from multiplexed imaging or spatial RNA-sequencing data. SpatialDE also implements ' automatic expression histology', a spatial gene-clustering approach that enables expression-based tissue histology.

Do conserved noncoding elements co-occur with matrix-attachment regions?

Yes. It is estimated that 11% of the conserved noncoding DNA consists of predicted MARs. Conversely, more than half of the predicted MARs co-occur with one or more independently identified conserved sequence blocks. An excess of conserved predicted MARs is seen in intergenic regions preceding 5' ends of genes, suggesting that these MARs are primarily involved in transcriptional control.

What is the function of Oseltamivir when administered during flu?

Oseltamivir (has known by its brand name 'Tamiflu') is a prodrug, requiring ester hydrolysis for conversion to the active form, Oseltamivir carboxylate. Oseltamivir is the first orally active neuraminidase inhibitor and it is an antiviral drug for the treatment of Swine Flu.

Which protein is mutated in Erythropoietic Protoporphyria?

Erythropoietic protoporphyria (EPP) is a rare inherited disorder of the heme biosynthesis pathway resulting in the accumulation of protoporphyrins in the blood, erythrocytes, and other tissues. Because of a gene mutation in the FECH gene, ferrochelatase, the enzyme involved in the final step of heme synthesis, is deficient in these patients.

Is Ozanimod effective for Ulcerative Colitis?

Yes, Ozanimod is effective for Ulcerative Colitis.

Inhibition of which enzyme is mechanism of action of alisertib?

Alisertib (MLN8237) is selective Aurora kinase inhibitor that acts by interfering with spindle organization and chromosome alignment during mitosis. It has been tested in patients with gastric cancer, breast cancer, relapsed and refractory aggressive B- and T-cell non-Hodgkin lymphomas, epithelial ovarian, fallopian tube, and primary peritoneal carcinoma.

Is there an increased risk of meningiomas in atomic bomb survivors?

Yes, the incidence of meningiomas is increased in atomic bomb survivors.

List four principles of medical ethics.

The four principles of medical ethics proposed by Beauchamp and Childress are autonomy, non-maleficence, beneficence and justice. They have been extremely influential in the field of medical ethics, and are fundamental for understanding the current approach to ethical assessment in health care.

Which population has a high frequency of the HLA-B*1502 allele?

HLA-B*1502 has a high frequency in Han Chinese and other Asian populations, except Japanese. (There is a strong association between human leucocyte antigen (HLA)-B*1502 and carbamazepine-induced Stevens-Johnson syndrome (SJS)).

What molecule is targeted by suvorexant?

Suvorexant is a dual orexin receptor antagonist for the treatment of sleep onset and sleep maintenance insomnia.

How does ranolazine affect kinase signaling activation in the heart?

Ranolazine inhibits Ca(2+)/calmodulin kinase II (CaMKII) activity

What is MOV10?

MOV10 is an RNA helicase

Which is the most common measure of differences between dinucleotide relative abundance "genomic signatures"

The concept of a genomic signature was introduced with the observation of species-type specific Dinucleotide Relative Abundance Profiles (DRAPs). The set of dinucleotide odds ratios or 'general design' is a remarkably stable property of the DNA of an organism, and can be used to discriminate between sequences from different organisms. The average absolute dinucleotide relative abundance difference is termed delta-distance. Delta-distance is the most commonly used measure of differences bwetween "genomic signatures". Delta-distances between different genomic sequences in the same species are low, and are generally smaller than the between-species delta-distances.

Name two rotavirus vaccines.

Two rotavirus vaccines licensed for global use are RotaTeq and Rotarix.

How many times is CLAST faster than BLAST?

was capable of identifying sequence similarities ~80.8 times faster than blast and 9.6 times faster than blat .

Which was the first gene therapy to receive marketing authorization in the European Union?

The first gene therapy to receive marketing authorization in the European Union was Glybera (alipogene tiparvovec).

Which gene harbors the mutation T790M?

The T790M mutation refers to the mutation in exon 20 of the EGFR gene

Has the gorilla genome been determined?

Yes, the gorilla genome has been sequenced.

Which two antibodies directed towards the CGRP ligand, were approved by the FDA in September 2018.

Two antibodies, fremanezumab and galcanezumab, directed towards the CGRP ligand, were approved by the FDA in September 2018.

List programs suitable for protein docking

Macromolecular docking is the computational modelling of the quaternary structure of complexes formed by two or more interacting biological macromolecules. Protein–protein complexes are the most commonly attempted targets of such modelling, followed by protein–nucleic acid complexes. The ultimate goal of docking is the prediction of the three-dimensional structure of the macromolecular complex of interest as it would occur in a living organism. Docking itself only produces plausible candidate structures. These candidates must be ranked using methods such as scoring functions to identify structures that are most likely to occur in nature. Nowadays there a lot of programs suitable for proteins docking such as CSBB-ConeExclusion, HADDOCK, ZDOCK, GalaxyDock, PHASE, DockRank, HotLig, SOL, AutodockVina, DockoMatic, DockoMatic, DockTrina, CAVITY, LiGenDock and DOCK.

List adipokines.

adiponectin leptin resistin

Are adenylyl cyclases always transmembrane proteins?

Adenylyl cyclases exists both as transmembrane and soluble proteins.

What is Mobilome-seq?

Mobilome-seq is a method for selectively amplifying and sequencing eccDNAs. It relies on linear digestion of genomic DNA followed by rolling circle amplification of circular DNA. Both active DNA transposons and retrotransposons can be identified using this technique.

Which type of lung cancer is afatinib used for?

Afatinib is a small molecule covalently binding and inhibiting the EGFR, HER2 and HER4 receptor tyrosine kinases. Trials showed promising efficacy in patients with EGFR-mutant NSCLC or enriched for clinical benefit from EGFR tyrosine kinase inhibitors gefitinib or erlotinib.

How many periods of regulatory innovation led to the evolution of vertebrates?

Investigators proposed that there have been three extended periods in the evolution of gene regulatory elements. Early vertebrate evolution was characterized by regulatory gains near transcription factors and developmental genes, but this trend was replaced by innovations near extracellular signaling genes, and then innovations near posttranslational protein modifiers.

Which bacteria causes rat bite fever?

Rat bite fever is caused by Streptobacillus moniliformis. Infection induces typical but not pathognomonic clinical signs, such as local purulent wound infection followed by maculopapular exanthema, myalgia as well as purulent joint infections.

Can ferric carboxymaltose be used to treat anemia in inflammatory bowel disease patients?

Ferric carboxymaltose can be used to treat anemia in patients with inflammatory bowel disease, and prevents recurrence of anemia in these patients, compared with placebo. Treatment with ferric carboxymaltose is efficious, safe and well tolerated in iron-deficient IBD patients.

Which transcription factor is considered as a master regulator of lysosomal genes?

Transcription factor EB (TFEB) is a master regulator of lysosomal biogenesis and autophagy, driving lysosome adaptation to environmental cues, such as starvation, and therefore targeting of TFEB may provide a novel therapeutic strategy for modulating lysosomal function in human disease.

Which method is Proseek based on?

proximity extension immunoassay

What makes telomerase a good drug target?

Human telomerase is absent in most normal tissues, but is abnormally activated in all major cancer cells. Telomerase enables tumor cells to maintain telomere length, allowing indefinite replicative capacity.

Which proteins compose the error prevention GO (8-oxo-G) system in Pseudomonas putida?

In P. putida (Pseudomonas putida) the error prevention GO (8-oxo-G) system is composed of MutY, MutM, and MutT enzymes.

What is the active ingredient of Eligard?

The active ingredient of Eligard is leuprorelin acetate.

Describe Vanishing lung syndrome.

Vanishing lung syndrome, also known as idiopathic giant bullous emphysema, is a rare disease characterized by giant emphysematous bullae. It is a rare radiological syndrome in which the lungs appear to be disappearing on X-ray. It typically occurs in young, thin male smokers with large bullae in one or more upper lobes occupying at least one-third of the hemithorax. This syndrome is associated with significant morbidity and mortality.

What is the role of Kmt5a in liver?

H4K20 monomethylation maintains genome integrity by regulating proper mitotic condensation, DNA damage response, and replication licensing. In non-dividing hepatic cells, H4K20Me1 is specifically enriched in active gene bodies and dynamically regulated by the antagonistic action of Kmt5a methylase and Kdm7b demethylase. In liver-specific Kmt5a-deficient mice, reduced levels of H4K20Me1 correlated with reduced RNA Pol II release from promoter-proximal regions. Genes regulating glucose and fatty acid metabolism were most sensitive to impairment of RNA Pol II release. Downregulation of glycolytic genes resulted in an energy starvation condition partially compensated by AMP-activated protein kinase (AMPK) activation and increased mitochondrial activity. This metabolic reprogramming generated a highly sensitized state that, upon different metabolic stress conditions, quickly aggravated into a senescent phenotype due to ROS overproduction-mediated oxidative DNA damage.

Which are the bioinformatics tools for gene structure prediction?

The in silico prediction of the complete structure of genes is one of the main challenges of bioinformatics. A critical part in the gene structure prediction is to identify the boundaries between exons and introns (i.e. splice sites) in the coding region. Several advanced bioinformatics tools have been developed for the precise delineation of a given gene structure: WPSS, SCGPred, TICO, GLIMMER, MetWAMer, WebScipio, GeneSeqer, SplicePredictor, DGSplicer, Transcript Assembly Program (TAP), GeneBuilder, SeqHelp, HSPL, RNASPL, HEXON, CDSB, HBR, FGENE and FGENEH for human genes.